scholarly journals Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D ( XPD ) and Glutathione S‐transferase Mu 1 ( GSTM 1) and Theta 1 ( GSTT 1) genes on cutaneous melanoma susceptibility and prognosis

2019 ◽  
Vol 28 (5) ◽  
pp. 631-635 ◽  
Author(s):  
José Augusto Rinck‐Junior ◽  
Caroline Torricelli ◽  
Gabriela Vilas Bôas Gomez ◽  
Cristiane Oliveira ◽  
Aparecida Machado Moraes ◽  
...  
Keyword(s):  
Cutaneous Melanoma ◽  
Xeroderma Pigmentosum ◽  
Glutathione S Transferase ◽  
Functional Variants ◽  
Group D ◽  
Xeroderma Pigmentosum Group D

scholarly journals DNA Quality Control by a Lesion Sensor Pocket of the Xeroderma Pigmentosum Group D Helicase Subunit of TFIIH

2013 ◽  
Vol 23 (3) ◽  
pp. 204-212 ◽  
Author(s):  
Nadine Mathieu ◽  
Nina Kaczmarek ◽  
Peter Rüthemann ◽  
Andreas Luch ◽  
Hanspeter Naegeli
Keyword(s):  
Quality Control ◽  
Xeroderma Pigmentosum ◽  
Dna Quality ◽  
Group D ◽  
Xeroderma Pigmentosum Group D

Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene

1996 ◽  
Vol 362 (2) ◽  
pp. 209-211 ◽  
Author(s):  
Bernard C Broughton ◽  
Herdis Steingrimsdottir ◽  
Alan R Lehmann
Keyword(s):  
Xeroderma Pigmentosum ◽  
Coding Sequence ◽  
Group D ◽  
Xeroderma Pigmentosum Group D

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene

1994 ◽  
Vol 3 (10) ◽  
pp. 1783-1788 ◽  
Author(s):  
Gregory D. Frederick ◽  
Robin H. Amirkhan ◽  
Roger A. Schultz ◽  
Errol C. Friedberg
Keyword(s):  
Xeroderma Pigmentosum ◽  
Mutational Analysis ◽  
Group D ◽  
Xeroderma Pigmentosum Group D

scholarly journals A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Takayuki Yokoi ◽  
Yumi Enomoto ◽  
Tomoko Uehara ◽  
Kenjiro Kosaki ◽  
Kenji Kurosawa
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Neurological Disease ◽  
Xeroderma Pigmentosum ◽  
Compound Heterozygous ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Skin Symptoms ◽  
Group D ◽  
Xeroderma Pigmentosum Group D

AbstractWe report a Japanese girl with mild xeroderma pigmentosum group D neurological disease. She had short stature, cataracts, intellectual disability, and mild skin symptoms. However, she was not clinically diagnosed. Using whole-exome sequencing, we identified compound heterozygous pathogenic variants in ERCC2. In the future, the patient may develop skin cancer and her neurological symptoms may progress. Early genetic testing is necessary to clarify the cause of symptoms in undiagnosed patients.

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